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Clcnka Gene Detail
Summary
  • Symbol
    Clcnka
  • Name
    chloride channel, voltage-sensitive Ka
  • Synonyms
    CLC-K1, Clcnk1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1329026
    NCBI Gene: 12733
Location & Maps
more
  • Sequence Map
    Chr4:141384610-141398724 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      14115 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 73.94 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    CLCNKA, chloride voltage-gated channel Ka
  • Vertebrate Orthologs
    9
  • Human Ortholog
    CLCNKA, chloride voltage-gated channel Ka
    Orthology source: HGNC
  • Synonyms
    ClC-K1, CLCK1, hClC-Ka
  • Links
    NCBI Gene ID: 1187
    neXtProt AC: NX_P51800

  • Chr Location
    1p36; chr1:16021991-16034050 (+)  GRCh38.p2

  • Human Ortholog
    CLCNKB, chloride voltage-gated channel Kb
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ClC-K2, ClC-Kb, CLCKB
  • Links
    NCBI Gene ID: 1188
    neXtProt AC: NX_P51801

  • Chr Location
    1p36; chr1:16043736-16057326 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Clcnka mouse models; 2 with human CLCNKA,CLCNKB associations

Human Disease Mouse Models
       Diabetes Insipidus, Nephrogenic, X-Linked   OMIM: 304800 View 1 model
       Bartter Syndrome, Type 3; BARTS3   OMIM: 607364
Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness;   OMIM: 613090
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    2 phenotypes from 1 allele in 1 genetic background
    10 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    8
  • Chemically induced (other)
    2
  • Gene trapped
    2
  • Targeted
    4
  • Genomic Mutations
    3 involving Clcnka
  • Incidental Mutations
Homozygous mutation of this gene results in increased urine volume and decreased urine osmolarity.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000010291 VEGA Gene Model | MGI Sequence Detail 14115 C57BL/6J ±  kb
transcript OTTMUST00000023956 VEGA | MGI Sequence Detail 2511 Not Applicable  
polypeptide OTTMUSP00000010986 VEGA | MGI Sequence Detail 687 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    164 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 20
    Genomic 1
    cDNA 19

    Microarray probesets 4
Other
Accession IDs
less
MGI:2140644
References
more
  • Summaries
    All 36
    Developmental Gene Expression 4
    Diseases 1
    Gene Ontology 7
    Phenotypes 10
  • Earliest
    J:51917 Matsumura Y, et al., Overt nephrogenic diabetes insipidus in mice lacking the CLC-K1 chloride channel [see comments]. Nat Genet. 1999 Jan;21(1):95-8
  • Latest
    J:204118 L'Hoste S, et al., Characterization of the mouse ClC-K1/Barttin chloride channel. Biochim Biophys Acta. 2013 Nov;1828(11):2399-409

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory